SLC3A1 R362H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SLC3A1 R362H

(SLC3A1 Arg362His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    OMIM
  • Cystinuria
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • OMIM: 104614
    Calonge et al. (1995) also referred to the SLC3A1 gene as rBAT. ... 6 of the SLC3A1 gene in the other allele, resulting in an arg362-to-his (R362H; 104614.0008) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+104614
  • OMIM: 604144
    All SLC3A1 carriers and 14% of SLC7A9 carriers showed a normal amino ... SLC3A1 gene and an R362H substitution (104614.0008) in the other allele of the SLC3A1 ...
    www.genome.jp/dbget-bin/www_bget?omim+604144
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Q09470 R204H 199 VAR_020051 PKC (0.539) Polymorphism (dbSNP:rs2229000) SLC3A1 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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